A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17397378



Internal ID22455248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202143176..202143520hg38UCSC Ensembl
chr2:203007899..203008243hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5898241
Supporting Variants
Samples
Known GenesLOC100652824
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17397378
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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